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Aliases for SLC33A1 Gene

Aliases for SLC33A1 Gene

  • Solute Carrier Family 33 Member 1 2 3 4 5
  • Solute Carrier Family 33 (Acetyl-CoA Transporter), Member 1 2 3
  • ACATN 3 4
  • AT-1 3 4
  • AT1 3 4
  • Spastic Paraplegia 42 (Autosomal Dominant) 2
  • Acetyl-Coenzyme A Transporter 1 3
  • Acetyl-Coenzyme A Transporter 2
  • Acetyl-CoA Transporter 1 4
  • CCHLND 3
  • SPG42 3

External Ids for SLC33A1 Gene

Previous HGNC Symbols for SLC33A1 Gene

  • ACATN
  • SPG42

Previous GeneCards Identifiers for SLC33A1 Gene

  • GC03M156390
  • GC03M156825
  • GC03M156865
  • GC03M156866
  • GC03M157027
  • GC03M155544
  • GC03M152938

Summaries for SLC33A1 Gene

Entrez Gene Summary for SLC33A1 Gene

  • The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]

GeneCards Summary for SLC33A1 Gene

SLC33A1 (Solute Carrier Family 33 Member 1) is a Protein Coding gene. Diseases associated with SLC33A1 include Congenital Cataracts, Hearing Loss, And Neurodegeneration and Spastic Paraplegia 42, Autosomal Dominant. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycosphingolipid biosynthesis - ganglio series. GO annotations related to this gene include solute:proton symporter activity and acetyl-CoA transporter activity.

UniProtKB/Swiss-Prot for SLC33A1 Gene

  • Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC33A1 Gene

Genomics for SLC33A1 Gene

Regulatory Elements for SLC33A1 Gene

Enhancers for SLC33A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G155888 1.2 Ensembl ENCODE 12.1 -35.7 -35701 2.7 PKNOX1 FOXA2 ATF1 CREB3L1 ARNT TCF12 ZNF766 GATA2 FOS NFYC SLC33A1 ENSG00000214919 PLCH1 GMPS C3orf33 SETP14
GH03G155743 1.5 FANTOM5 Ensembl ENCODE 6 +109.0 109004 3.6 PKNOX1 CREB3L1 ARID4B SIN3A ZNF48 ETS1 GLIS2 ELK1 KDM4B MXD4 C3orf33 SLC33A1 PLCH1 RPL7AP24
GH03G155851 1.2 ENCODE 5.8 +0.8 791 3.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SLC33A1 C3orf33
GH03G155804 1.1 ENCODE 5.1 +48.8 48763 2.4 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 ZNF207 ZNF143 C3orf33 PLCH1 SLC33A1 RPL7AP24
GH03G155663 1.1 Ensembl ENCODE 4.8 +189.0 188996 4.3 ELF3 FOXA2 ZSCAN4 SIN3A DNMT3B ZSCAN9 RAD21 RARA ZNF654 USF2 PLCH1 ENSG00000214919 PLCH1-AS2 SLC33A1 PIR36771
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC33A1 on UCSC Golden Path with GeneCards custom track

Promoters for SLC33A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000160703 659 3201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC

Genomic Location for SLC33A1 Gene

Chromosome:
3
Start:
155,821,024 bp from pter
End:
155,854,459 bp from pter
Size:
33,436 bases
Orientation:
Minus strand

Genomic View for SLC33A1 Gene

Genes around SLC33A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC33A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC33A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC33A1 Gene

Proteins for SLC33A1 Gene

  • Protein details for SLC33A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00400-ACATN_HUMAN
    Recommended name:
    Acetyl-coenzyme A transporter 1
    Protein Accession:
    O00400
    Secondary Accessions:
    • B2R5Q2
    • D3DNK4

    Protein attributes for SLC33A1 Gene

    Size:
    549 amino acids
    Molecular mass:
    60909 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC33A1 Gene

Post-translational modifications for SLC33A1 Gene

  • Ubiquitination at isoforms=135
  • Glycosylation at Asn103
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC33A1 Gene

Domains & Families for SLC33A1 Gene

Gene Families for SLC33A1 Gene

Protein Domains for SLC33A1 Gene

Suggested Antigen Peptide Sequences for SLC33A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00400

UniProtKB/Swiss-Prot:

ACATN_HUMAN :
  • Belongs to the SLC33A transporter family.
Family:
  • Belongs to the SLC33A transporter family.
genes like me logo Genes that share domains with SLC33A1: view

Function for SLC33A1 Gene

Molecular function for SLC33A1 Gene

UniProtKB/Swiss-Prot Function:
Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides (PubMed:9096318). Negatively regulates BMP signaling (PubMed:25402622).

Gene Ontology (GO) - Molecular Function for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008521 acetyl-CoA transporter activity TAS,IEA --
GO:0015295 solute:proton symporter activity IBA --
genes like me logo Genes that share ontologies with SLC33A1: view
genes like me logo Genes that share phenotypes with SLC33A1: view

Human Phenotype Ontology for SLC33A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC33A1 Gene

MGI Knock Outs for SLC33A1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC33A1 Gene

Localization for SLC33A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC33A1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC33A1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005887 integral component of plasma membrane TAS 9096318
GO:0016020 membrane IEA,IDA 19946888
genes like me logo Genes that share ontologies with SLC33A1: view

Pathways & Interactions for SLC33A1 Gene

genes like me logo Genes that share pathways with SLC33A1: view

Gene Ontology (GO) - Biological Process for SLC33A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport TAS,IEA 9096318
GO:0015876 acetyl-CoA transport IEA --
GO:0015992 proton transport IEA --
GO:0030509 BMP signaling pathway IDA 25402622
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC33A1: view

No data available for SIGNOR curated interactions for SLC33A1 Gene

Drugs & Compounds for SLC33A1 Gene

(1) Drugs for SLC33A1 Gene - From: DGIdb and IUPHAR

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
[<sup>14</sup>C]acetylCoA Pharma 0

(1) Additional Compounds for SLC33A1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
genes like me logo Genes that share compounds with SLC33A1: view

Transcripts for SLC33A1 Gene

Unigene Clusters for SLC33A1 Gene

Solute carrier family 33 (acetyl-CoA transporter), member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC33A1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8
SP1: -
SP2:
SP3: -
SP4: - -
SP5: - -

Relevant External Links for SLC33A1 Gene

GeneLoc Exon Structure for
SLC33A1
ECgene alternative splicing isoforms for
SLC33A1

Expression for SLC33A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC33A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC33A1 Gene

This gene is overexpressed in Nasal epithelium (45.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC33A1 Gene



Protein tissue co-expression partners for SLC33A1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC33A1 Gene:

SLC33A1

SOURCE GeneReport for Unigene cluster for SLC33A1 Gene:

Hs.478031

mRNA Expression by UniProt/SwissProt for SLC33A1 Gene:

O00400-ACATN_HUMAN
Tissue specificity: Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.

Evidence on tissue expression from TISSUES for SLC33A1 Gene

  • Kidney(4.2)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC33A1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with SLC33A1: view

Primer Products

No data available for mRNA differential expression in normal tissues for SLC33A1 Gene

Orthologs for SLC33A1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC33A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC33A1 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia SLC33A1 34 35
  • 91.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC33A1 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc33a1 34
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Slc33a1 34 16 35
  • 87.8 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC33A1 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC33A1 34 35
  • 85.79 (n)
chicken
(Gallus gallus)
Aves SLC33A1 34 35
  • 73.88 (n)
lizard
(Anolis carolinensis)
Reptilia SLC33A1 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc33a1 34
  • 69.49 (n)
Str.8705 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.30949 34
zebrafish
(Danio rerio)
Actinopterygii slc33a1 34 35
  • 66.67 (n)
zgc63693 34
fruit fly
(Drosophila melanogaster)
Insecta CG9706 34 35
  • 54.31 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006943 34
  • 54.09 (n)
worm
(Caenorhabditis elegans)
Secernentea T26C5.3 34 35
  • 55.77 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09581g 34
  • 47.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YBR220C 34
  • 45.05 (n)
-- 35
  • 31 (a)
OneToOne
-- 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.771 35
  • 55 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC21B10.09 34
  • 46.26 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09101 34
  • 46.12 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4830 34
Species where no ortholog for SLC33A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC33A1 Gene

ENSEMBL:
Gene Tree for SLC33A1 (if available)
TreeFam:
Gene Tree for SLC33A1 (if available)

Paralogs for SLC33A1 Gene

Pseudogenes.org Pseudogenes for SLC33A1 Gene

genes like me logo Genes that share paralogs with SLC33A1: view

No data available for Paralogs for SLC33A1 Gene

Variants for SLC33A1 Gene

Sequence variations from dbSNP and Humsavar for SLC33A1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs121909484 Pathogenic, Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539] 155,853,659(-) TTCAG(G/T)TTTGT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs281875283 Pathogenic, Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482] 155,853,670(-) ACCAA(C/G)CTTTC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
VAR_035776 A colorectal cancer sample
rs863223316 Pathogenic 155,853,383(-) ATGTT(-/T)ATCCA nc-transcript-variant, upstream-variant-2KB, reference, frameshift-variant, utr-variant-5-prime
rs139894444 Likely benign 155,828,041(+) AAAAA(-/T)ATGAT intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC33A1 Gene

Variant ID Type Subtype PubMed ID
esv3598283 CNV loss 21293372
nsv979891 CNV duplication 23825009

Variation tolerance for SLC33A1 Gene

Residual Variation Intolerance Score: 28.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.52; 77.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC33A1 Gene

Human Gene Mutation Database (HGMD)
SLC33A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC33A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC33A1 Gene

Disorders for SLC33A1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SLC33A1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
congenital cataracts, hearing loss, and neurodegeneration
  • cchlnd
spastic paraplegia 42, autosomal dominant
  • hereditary spastic paraplegia 42
spastic paraplegia 42
  • spastic paraplegia 42, autosomal dominant
paraplegia
  • paraplegia, lower
spastic paraplegia 6, autosomal dominant
  • hereditary spastic paraplegia 6
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ACATN_HUMAN
  • Congenital cataracts, hearing loss, and neurodegeneration (CCHLND) [MIM:614482]: An autosomal recessive disorder characterized by congenital cataracts, severe psychomotor retardation, and hearing loss associated with decreased serum ceruloplasmin and copper. Brain MRI shows cerebral and cerebellar atrophy and hypomyelination. {ECO:0000269 PubMed:22243965}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 42, autosomal dominant (SPG42) [MIM:612539]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:19061983, ECO:0000269 PubMed:25402622}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC33A1

Genetic Association Database (GAD)
SLC33A1
Human Genome Epidemiology (HuGE) Navigator
SLC33A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC33A1
genes like me logo Genes that share disorders with SLC33A1: view

No data available for Genatlas for SLC33A1 Gene

Publications for SLC33A1 Gene

  1. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). (PMID: 19061983) Lin P. … Gong Y. (Am. J. Hum. Genet. 2008) 2 3 4 22 64
  2. Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated gangliosides: a putative acetyl CoA transporter. (PMID: 9096318) Kanamori A. … Hirabayashi Y. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  3. Identification and functional analysis of a SLC33A1: c.339T&amp;gt;G (p.Ser113Arg) variant in the original SPG42 family. (PMID: 25402622) Mao F. … Gong Y. (Hum. Mutat. 2015) 3 4 64
  4. Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin. (PMID: 22243965) Huppke P. … Gartner J. (Am. J. Hum. Genet. 2012) 3 4 64
  5. A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42). (PMID: 20461110) Schlipf N.A. … SchAPls L. (Eur. J. Hum. Genet. 2010) 3 46 64

Products for SLC33A1 Gene

Sources for SLC33A1 Gene

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